April 18 Flashcards
(46 cards)
Paget’s disease is associated with development of what malignancy?
Osteosarcoma
What is globus sensation?
Feeling of lump in throat without accompanying physical, endoscopic or radiographic findings of esophageal obstruction
Synovial fluid analysis of pt with gout will show what?
Numerous neutrophils with slender, needle shaped, and negatively birefringent monosodium urate crystals
What is a sensitive indicator of apoptosis?
DNA laddering–fragments in multiples of 180bp
–Karyorrhexis—fragmentation caused by endonuclease cleaving at internucleosomal regions
Malignancies can develop by evading apoptosi-BCL2 mutation–evades intrinsic (mitochondrial) pathway of apoptosis
What type of mutation should be consider when a genetic mutation is present in offspring but not in the parents?
Germline (gondal) mosaicism –mutation only in egg or sperm cells
Look for ______ in cytoplasm when pt has leukemia.
Auer rods–Acute myelogenous leukemia t(15;17)
What cytokine is exclusively produced by T lymphocytes and what is its function?
IL-2–stimulates the growth and differentiation of T cells, B cells NK cells, macrophages
Umbilicated, flesh colored papules on the skin and mucous membranes with cytoplasmic inclusion bodies seen on microscopy?
Molluscum contagiosum–Molluscum bodies
Injury to what structure is most likely with anterior or posterior knee dislocation?
Popliteal artery
Pt comes to clinic 5 days postpartum with fever, leukocytosis, uterine tenderness and foul-smelling vaginal discharge. What is the most likely cause of this pts symptoms?
Postpartum endometritis–due to cesarean delivery
–Infection of the uterus
What does secretin cause within the exocrine pancreas?
Increased secretion of HCO3- and decreased secretion of Cl-
What enzyme is affected in acute intermittent porphyria and what step in him synthesis does this involve?
Prophobilinogen deaminse
Prophobilingoen—> Hydroxymethylbilane
CHF is a common cause of transudative pleural effusion. What is seen with respect to protein and lactate dehydrogenase levels?
Decreased protein and LDH
If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops?
Loss of heterozygosity
Retinoblastoma and the “two-hit hypothesis”
Lynch syndrome (HNPCC)
Li-Fraumeni syndrome
Male genotype and a female phenotype with external female genitalia and a vagina ending in a blind pouch with high testosterone and LH levels and normal FSH levels–characteristic of what disease?
Complete androgen insensitivity 46 XY karyotype
Mullerian agenesis–46 XX with missing uterus and upper vagina but normal hormone levels
Premature infants are at increased risk of intraventricular hemorrhage due to what?
Germinal matrix fragility
Vast majority of cancers in the head and neck are ?
SCC
Ventral tongue, Floor of the mouth, Lower lip, Soft palate, gingiva –infiltrate adjacent tissue and eventually metastasis to cervical lymph nodes or distally to mediastinal lymph nodes, lungs, liver, and bone
Palmitoylation is?
Process by which fatty acids are covalently anchored to plasma membrane cysteine residues —increasing the hydrophobicity of a protein
Disease characterize4d by short stature and shortened 4th/5th digits, increased PTH level with hypocalcemia and is caused by defective Gs protein a-subunit causing end-organ resistance to PTH?
Pseudohypoparathyroidism type 1A–Albring hereditary osteodystrophy
Autosomal dominant–must be inherited from mother due to imprinting
End-organ resistance to PTH
Different mutations at the same gene locus cause the same phenotype?
Allelic heterogeneity
What is the classic triad seen with hemochromatosis?
Cirrhosis
DM
Skin pigmentation–bronze diabetes
Excessive GI absorption of Iron
Also causes dilated cardiomyopathy (reversible), hypogonadism, arthropathy–calcium pyrophosphate deposition
X-linked genetic condition that results in a defect in signaling molecule important for maturation of B cells –infant develops recurrent Bacterial URIs.
X-linked (Bruton) agammaglobulinemia
–defect in Bruton’s tyrosine kinase
Normal T-cells but low or absent B-cells (CD19 and CD20)
Proteins destined for the ER possess what signal?
N-terminal peptide signal sequences (hydrophobic)
–removing these sequences will result in inappropriate accumulation of the protein in the cytosol because the SRPs are unable to recognize the protein needing to be transported into the ER
Infant with increased branch chained amino acids is deficient in what enzyme, which is dependent on ______.
Decreased branched-chain a-ketoacid dehydrogenase
–dependent on thiamine as cofactor
I Love Vermont maple syrup from maple tress (with B1ranches)
Tx: restriction of isoleucine, leucine, valine in diet
Supplementation of thiamine
